Lymphangioleiomyomatosis, a rare disease of unknown aetiology, affects women only. It mainly involves the lungs where, as its name suggests, lymphatics (lymph), blood vessels (angio), and airways are surrounded by smooth muscle (leiomyo) proliferation. It is characterised by progressive dyspnoea, haemoptysis, pneumothorax, and chylous pleural effusions and runs a variable course culminating usually in respiratory failure.1 ,2 Lymph nodes in the abdomen and pelvis may be involved and up to half the patients have renal angiomyolipomas. The disease usually arises spontaneously although it also occurs in some patients with tuberous sclerosis.3

Much of our knowledge of this unusual disorder is anecdotal, coming from case reports and reviews of patients attending tertiary referral centres, which may not represent the full spectrum of the disease. This will change over the next few years as patient registries are being compiled for research purposes in the United Kingdom, United States, and France. This approach, coupled with recent advances in the cell biology of lymphangioleiomyomatosis, will it is hoped improve management and the outcome for patients. This article will cover the clinical features and natural history of isolated lymphangioleiomyomatosis, discuss issues in diagnosis and management, and finally review what is known of the aetiology and cell biology of the disease.